Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

819 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
c CNG015 Congenital Diaphragmatic Hernia 59 6.665
2
HTS001 Hiatus Hernia 43 5.119
3
P DPH016 Diaphragmatic Hernia 3 40 4.784
4
DNN002 Donnai-Barrow Syndrome 40 4.451
5
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 24 3.395
6
FRY002 Fryns Syndrome 42 3.033
7
ACR038 Acromegaloid Features, Overgrowth, Cleft Palate and Hernia 6 2.908
8
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.908
9
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 3 2.895
10
MCR090 Microspherophakia with Hernia 1 2.895
11
ABD010 Abdominal Wall Defect 39 2.551
12
P SHR029 Short Syndrome 55 2.450
13
LMB010 Lambert Syndrome 37 2.369
14
GRS006 Gershoni-Baruch Syndrome 6 2.369
15
DPH011 Diaphragmatic Hernia Upper Limb Defects 4 2.369
16
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.369
17
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 2.369
18
c HRN009 Hernia, Congenital Diaphragmatic 1 8 2.353
19
c HRN010 Hernia, Congenital Diaphragmatic 2 8 2.353
20
HRN002 Hernia of Ovary and Fallopian Tube 6 2.353
21
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 5 2.353
22
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 2.353
23
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 2 2.353
24
c PRS049 Persistent Mullerian Duct Syndrome 44 1.738
25
DSP001 Displacement of Cardia Through Esophageal Hiatus 8 1.701
26
SHP002 Shprintzen-Goldberg Syndrome 31 1.685
27
PGD001 Pagod Syndrome 24 1.685
28
GST056 Gastrocutaneous Syndrome 15 1.685
29
APL011 Aplasia Cutis Myopia 16 1.664
30
MGR005 Megarbane Syndrome 4 1.664
31
SLB001 Saal Bulas Syndrome 4 1.664
32
P ESP024 Esophagitis 64 0.292
33
c INT070 Intestinal Obstruction 63 0.188
34
HYD005 Hydrocele 51 0.177
35
P HYP075 Hypertension 87 0.133
36
c PLM037 Pulmonary Hypertension 73 0.123
37
MCK002 Meckel's Diverticulum 41 0.120
38
PPT001 Peptic Esophagitis 33 0.114
39
CRY002 Cryptorchidism 63 0.112
40
GST034 Gastroesophageal Reflux Disease 66 0.109
41
ESP020 Esophageal Atresia 57 0.106
42
DDN006 Duodenitis 56 0.106
43
P OMP004 Omphalocele 52 0.106
44
APP008 Appendicitis 56 0.102
45
ENT001 Enterocele 28 0.096
46
FCL009 Focal Dermal Hypoplasia 58 0.092
47
P OBS005 Obesity 91 0.089
48
AND002 Androgen Insensitivity Syndrome 80 0.089
49
GST009 Gastroschisis 66 0.089
50
c HPT021 Hepatitis 64 0.089
51
CRD001 Cardiac Tamponade 55 0.089
52
ANR040 Aneurysm 46 0.089
53
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.089
54
c TYP003 Type I Ehlers-Danlos Syndrome 39 0.089
55
GST064 Gastric Outlet Obstruction 39 0.089
56
ART016 Aortic Aneurysm 71 0.085
57
PNM008 Pneumothorax 50 0.085
58
DPH006 Diaphragmatic Eventration 34 0.085
59
PRT036 Peritonitis 72 0.081
60
PSD007 Pseudomyxoma Peritonei 68 0.081
61
P ABD003 Abdominal Aortic Aneurysm 68 0.081
62
GST023 Gastric Ulcer 67 0.081
63
c THY032 Thyroiditis 66 0.081
64
c CHR345 Chronic Pain 47 0.081
65
BLD045 Bladder Diverticulum 28 0.081
66
c TRT010 Teratoma 59 0.077
67
CRN005 Craniofrontonasal Syndrome 56 0.077
68
GST007 Gastric Dilatation 28 0.077
69
MRF001 Marfan Syndrome 85 0.072
70
P DDN001 Duodenal Ulcer 62 0.072
71
P LPS002 Liposarcoma 60 0.072
72
P ADN016 Adenocarcinoma 59 0.072
73
P INF032 Infertility 55 0.072
74
P PLM064 Pulmonary Sequestration 29 0.072
75
WND002 Wandering Spleen 28 0.072
76
LPM004 Lipoma 65 0.068
77
VGN023 Vaginitis 63 0.068
78
WLF002 Wolf-Hirschhorn Syndrome 61 0.068
79
MLN007 Male Infertility 54 0.068
80
TRC040 Tracheoesophageal Fistula 49 0.068
81
CHL004 Cholelithiasis 48 0.068
82
INT071 Intestinal Perforation 42 0.068
83
TBR010 Tuberculosis 87 0.063
84
MNK001 Menkes Disease 74 0.063
85
c PNC044 Pancreatitis 69 0.063
86
MRB003 Morbid Obesity 68 0.063
87
GSG001 Gas Gangrene 68 0.063
88
c EHL001 Ehlers-Danlos Syndrome 64 0.063
89
DFC004 Deficiency Anemia 63 0.063
90
c MCP009 Mucopolysaccharidosis Ii 57 0.063
91
P WVR001 Weaver Syndrome 57 0.063
92
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.063
93
P EHL049 Ehlers–danlos Syndrome Classical Type 55 0.063
94
MCR013 Microphthalmia 54 0.063
95
STS002 Situs Inversus 53 0.063
96
END072 Endotheliitis 51 0.063
97
PSD009 Pseudohermaphroditism 51 0.063
98
PYL006 Pyloric Stenosis 50 0.063
99
NSP002 Nasopharyngitis 48 0.063
100
FSC004 Fasciitis 46 0.063
101
CRB009 Cerebritis 39 0.063
102
DDN009 Duodenal Obstruction 27 0.063
103
LVR012 Liver Cirrhosis 77 0.057
104
P ANG001 Angelman Syndrome 70 0.057
105
OCL005 Oculocerebrorenal Syndrome 70 0.057
106
CHR103 Charge Syndrome 65 0.057
107
P CLN016 Colon Cancer 65 0.057
108
WLL003 Williams Syndrome 61 0.057
109
CHL067 Cholecystitis 61 0.057
110
WGR001 Wagr Syndrome 60 0.057
111
IRN001 Iron Deficiency Anemia 57 0.057
112
P CMP008 Compartment Syndrome 56 0.057
113
PLY012 Polyhydramnios 54 0.057
114
ACH005 Achalasia 54 0.057
115
BLN003 Blindness 53 0.057
116
DYS073 Dysphagia 52 0.057
117
OBS001 Obstructive Jaundice 51 0.057
118
HJD001 Hajdu-Cheney Syndrome 50 0.057
119
P PRT096 Peritoneal Mesothelioma 50 0.057
120
DVR002 Diverticulitis 49 0.057
121
IMP002 Imperforate Anus 48 0.057
122
ABD004 Abdominal Tuberculosis 47 0.057
123
CMP034 Complete Androgen Insensitivity Syndrome 46 0.057
124
SYN036 Syncope 44 0.057
125
NCR007 Necrotizing Fasciitis 44 0.057
126
INT052 Intestinal Volvulus 33 0.057
127
RTR012 Retroperitoneal Liposarcoma 23 0.057
128
MLL004 Mallory-Weiss Syndrome 22 0.057
129
NSP010 Nasopharyngeal Teratoma 18 0.057
130
CYS001 Cystic Fibrosis 97 0.051
131
TTR001 Tetralogy of Fallot 75 0.051
132
RNL002 Renal Agenesis 70 0.051
133
P RSP003 Respiratory Failure 70 0.051
134
c MCP005 Mucopolysaccharidosis Vi 69 0.051
135
LMY002 Leiomyoma 69 0.051
136
P SHR002 Short Stature 68 0.051
137
P BCK002 Beckwith-Wiedemann Syndrome 68 0.051
138
SPN038 Spina Bifida 68 0.051
139
c NPH012 Nephrotic Syndrome 67 0.051
140
P PRT013 Portal Hypertension 66 0.051
141
c MCP004 Mucopolysaccharidosis Iv 65 0.051
142
ARS001 Aarskog-Scott Syndrome 64 0.051
143
ART019 Aortic Valve Stenosis 64 0.051
144
VCT001 Vacterl Association 62 0.051
145
EDW001 Edwards Syndrome 61 0.051
146
INT051 Intussusception 59 0.051
147
P CFF001 Coffin-Siris Syndrome 59 0.051
148
ANN002 Anencephaly 59 0.051
149
PRC012 Pericardial Effusion 58 0.051
150
c MLG002 Malignant Peritoneal Mesothelioma 57 0.051
151
URT001 Urethritis 55 0.051
152
ART001 Arterial Tortuosity Syndrome 55 0.051
153
MCN001 Mucinous Adenocarcinoma 55 0.051
154
WLL001 Williams-Beuren Syndrome 54 0.051
155
MCR010 Microcephaly 53 0.051
156
c HYD002 Hydronephrosis 52 0.051
157
c SPN183 Spontaneous Pneumothorax 52 0.051
158
THR013 Thoracic Outlet Syndrome 52 0.051
159
MNT147 Mental Retardation 52 0.051
160
ASP002 Aspartylglucosaminuria 50 0.051
161
HYP009 Hypertrophic Pyloric Stenosis 50 0.051
162
HRM002 Hermaphroditism 49 0.051
163
GLD002 Goldberg-Shprintzen Megacolon Syndrome 49 0.051
164
P ACH008 Achondrogenesis Type Ia 48 0.051
165
CHY006 Chylous Ascites 48 0.051
166
ACT055 Actinomycosis 47 0.051
167
MDS022 Mediastinitis 46 0.051
168
P HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 44 0.051
169
AGN013 Agenesis of the Corpus Callosum 44 0.051
170
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.051
171
MGS001 Megaesophagus 40 0.051
172
c TYP002 Type Vi Ehlers-Danlos Syndrome 39 0.051
173
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 34 0.051
174
SYN053 Syndromic Diarrhea 34 0.051
175
EHL050 Ehlers–danlos Syndrome Dermatosparaxis Type 32 0.051
176
15Q002 15q24 Microdeletion Syndrome 27 0.051
177
URC005 Urachal Cyst 24 0.051
178
XLN086 X-Linked Ehlers-Danlos Syndrome 17 0.051
179
GSB001 Gas Bloat Syndrome 9 0.051
180
SMT004 Smith-Lemli-Opitz Syndrome 84 0.044
181
P GST019 Gastrointestinal Stromal Tumor 83 0.044
182
P MCP002 Mucopolysaccharidosis I 78 0.044
183
ANK002 Ankylosing Spondylitis 77 0.044
184
c DBT009 Diabetes Mellitus 74 0.044
185
P PLM036 Pulmonary Fibrosis 69 0.044
186
DNY001 Denys-Drash Syndrome 69 0.044
187
P CNG401 Congenital Heart Disease 69 0.044
188
NRL016 Neural Tube Defects 68 0.044
189
c AXN002 Axenfeld-Rieger Syndrome 67 0.044
190
PHR003 Pharyngitis 66 0.044
191
P LRY019 Laryngitis 65 0.044
192
BRR003 Barrett's Esophagus 64 0.044
193
CLT003 Colitis 64 0.044
194
c KDN018 Kidney Disease 63 0.044
195
OCC006 Occipital Horn Syndrome 62 0.044
196
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.044
197
MYC002 Mycobacterium Avium Complex Disease 59 0.044
198
ANR004 Anuria 59 0.044
199
P PTT014 Pitt-Hopkins Syndrome 59 0.044
200
SMT015 Smith Magenis Syndrome 57 0.044
201
P PNC045 Pancreatic Agenesis 57 0.044
202
PST041 Posterior Urethral Valves 56 0.044
203
c ACR001 Aicardi-Goutieres Syndrome 54 0.044
204
c SMP003 Simpson-Golabi-Behmel Syndrome 54 0.044
205
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.044
206
MTT005 Matthew-Wood Syndrome 53 0.044
207
VRC001 Varicocele 51 0.044
208
EHL048 Ehlers–danlos Syndrome Arthrochalasia Type 49 0.044
209
TRN044 Transposition of the Great Arteries 49 0.044
210
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.044
211
P CRN139 Cornelia De Lange Syndrome 1 48 0.044
212
LYM021 Lymphadenitis 48 0.044
213
SCH016 Schimke Immunoosseous Dysplasia 47 0.044
214
DYS018 Dysostosis 46 0.044
215
P AZS001 Azoospermia 45 0.044
216
MTB004 Metabolic Acidosis 45 0.044
217
ILS001 Ileus 45 0.044
218
LMB052 Lumbar Disc Herniation 43 0.044
219
UTR039 Uterine Fibroid 42 0.044
220
TTR016 Tetra-Amelia Syndrome 42 0.044
221
DDN004 Duodenogastric Reflux 42 0.044
222
P MNN007 Meningocele 41 0.044
223
c SPN121 Spondylocostal Dysostosis 1 40 0.044
224
SPL006 Splenic Infarction 39 0.044
225
P SCH035 Schwartz Jampel Syndrome Type 1 38 0.044
226
c ACH009 Achondrogenesis Type Ib 36 0.044
227
ADS002 Adie Syndrome 35 0.044
228
c CTS019 Cutis Laxa, Ad 34 0.044
229
SCM001 Scimitar Syndrome 32 0.044
230
NNT039 Neonatal Marfan Syndrome 32 0.044
231
TRL003 Toriello Carey Syndrome 30 0.044
232
TRS012 Trisomy 22 30 0.044
233
MCH011 Meacham Syndrome 29 0.044
234
HNM002 Hinman Syndrome 28 0.044
235
PNM003 Pneumatosis Cystoides Intestinalis 25 0.044
236
AND005 Androgen Insensitivity Syndrome, Mild 21 0.044
237
CHL076 Chilaiditi Syndrome 19 0.044
238
ESP029 Esophageal Atresia/tracheoesophageal Fistula 16 0.044
239
PLM013 Pulmonary Immaturity 16 0.044
240
SND005 Sandifer Syndrome 16 0.044
241
P LVR011 Liver Cancer 91 0.036
242
P ATX002 Ataxia Telangiectasia 87 0.036
243
INC002 Inclusion Body Myositis 86 0.036
244
P PNM007 Pneumonia 78 0.036
245
P PRM021 Primary Pulmonary Hypertension 77 0.036
246
THY028 Thyroid Cancer 75 0.036
247
c PRM002 Primary Hyperoxaluria 74 0.036
248
c OST005 Osteogenesis Imperfecta 74 0.036
249
P PLL001 Pallister-Hall Syndrome 71 0.036
250
P END044 Endometriosis 70 0.036
251
P MYS005 Myositis 70 0.036
252
P MLG075 Malignant Mesothelioma 69 0.036
253
LKC001 Leukocyte Adhesion Deficiency 69 0.036
254
P HYD006 Hydrocephalus 68 0.036
255
PTR006 Peters Plus Syndrome 68 0.036
256
P DGR001 Digeorge Syndrome 67 0.036
257
ALV006 Alveolar Capillary Dysplasia 67 0.036
258
P GST044 Gastritis 66 0.036
259
ULC004 Ulcerative Colitis 65 0.036
260
ACR015 Acrocephalosyndactylia 65 0.036
261
TTN003 Tetanus 65 0.036
262
CRB037 Cerebral Palsy 65 0.036
263
DNH001 Donohue Syndrome 64 0.036
264
ISC004 Ischemia 63 0.036
265
ACN002 Acanthosis Nigricans 63 0.036
266
BLR001 Biliary Atresia 63 0.036
267
P LMY004 Leiomyosarcoma 62 0.036
268
P MYP004 Myopathy 62 0.036
269
P CNJ013 Conjunctivitis 62 0.036
270
c PLY014 Polycystic Kidney Disease 62 0.036
271
DWN001 Down Syndrome 62 0.036
272
SLY001 Sly Syndrome 61 0.036
273
c DST002 Distal Arthrogryposis 61 0.036
274
OLG003 Oligohydramnios 60 0.036
275
SPN020 Spondylosis 60 0.036
276
ACR008 Acrocallosal Syndrome 60 0.036
277
AMN001 Amenorrhea 59 0.036
278
DBL002 Double Outlet Right Ventricle 58 0.036
279
P PRM100 Primary Spontaneous Pneumothorax 58 0.036
280
HYP266 Hypoxia 58 0.036
281
PTN002 Patent Ductus Arteriosus 57 0.036
282
CRD002 Cri-Du-Chat Syndrome 57 0.036
283
ART017 Aortic Disease 56 0.036
284
RTN017 Retinal Detachment 56 0.036
285
MCR103 Microtia 56 0.036
286
RDC002 Radiculopathy 56 0.036
287
GST050 Gastrointestinal System Disease 56 0.036
288
P HLP012 Holoprosencephaly-3 55 0.036
289
P HYP040 Hypospadias 55 0.036
290
P SPN016 Spondylocostal Dysostosis 55 0.036
291
CYS014 Cystadenocarcinoma 55 0.036
292
P KLP003 Klippel-Feil Syndrome 55 0.036
293
CNS004 Constipation 54 0.036
294
RTN023 Retinitis 54 0.036
295
AND003 Andersen-Tawil Syndrome 54 0.036
296
BLD044 Bladder Disease 54 0.036
297
GST045 Gastroenteritis 54 0.036
298
c CRN015 Cornelia De Lange Syndrome 53 0.036
299
PTS001 Patau Syndrome 53 0.036
300
c NNT009 Neonatal Diabetes Mellitus 53 0.036
301
P CLF002 Cleft Palate 52 0.036
302
ESN005 Eosinophilic Gastroenteritis 52 0.036
303
ISC015 Ischemic Colitis 52 0.036
304
PYD002 Pyoderma 51 0.036
305
PRT019 Protein-Losing Enteropathy 51 0.036
306
THR009 Thrombocytopenia-Absent Radius Syndrome 51 0.036
307
ORC001 Orchitis 51 0.036
308
P NML001 Nemaline Myopathy 50 0.036
309
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.036
310
SMN007 Seminoma 49 0.036
311
ALB002 Albinism 49 0.036
312
c CTS001 Cutis Laxa 49 0.036
313
ADR027 Adrenocortical Insufficiency 49 0.036
314
P OVR046 Ovarian Cyst 47 0.036
315
FBR019 Fibromatosis 47 0.036
316
SCR024 Sacrococcygeal Teratoma 47 0.036
317
DDN011 Duodenal Atresia 47 0.036
318
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 0.036
319
HMN016 Hemangioendothelioma 46 0.036
320
HRS011 Horseshoe Kidney 45 0.036
321
PLR007 Pleural Empyema 45 0.036
322
BRS090 Breast Reconstruction 44 0.036
323
EXS007 Exstrophy of the Bladder 44 0.036
324
ARS002 Arsacs 44 0.036
325
c MCP014 Mucopolysaccharidosis Type Iiid 44 0.036
326
PRR010 Pierre Robin Sequence 44 0.036
327
PLR005 Pleuropneumonia 43 0.036
328
P SLD005 Sialidosis Type I 43 0.036
329
P ATX010 Ataxia Neuropathy Spectrum 43 0.036
330
SRF006 Surfactant Dysfunction 42 0.036
331
P CHR269 Chromosome 9p Deletion 41 0.036
332
PLN006 Poland Syndrome 41 0.036
333
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.036
334
SWY002 Swyer Syndrome 40 0.036
335
EXN003 Exencephaly 40 0.036
336
SPR035 Superior Vena Cava Syndrome 40 0.036
337
MLT054 Multiple Pterygium Syndrome Escobar Type 39 0.036
338
P KLF001 Kleefstra Syndrome 39 0.036
339
TTR004 Tetrology of Fallot 38 0.036
340
MYC015 Mycobacterium Fortuitum 38 0.036
341
HYP007 Hypermobility Syndrome 37 0.036
342
P CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37 0.036
343
EMN001 Emanuel Syndrome 37 0.036
344
VSC044 Visceral Myopathy 37 0.036
345
PRL008 Paralytic Ileus 36 0.036
346
PNT005 Pentalogy of Cantrell 36 0.036
347
P 2Q3002 2q37 Microdeletion Syndrome 35 0.036
348
IVM001 Ivemark Syndrome 34 0.036
349
IMM088 Immunodeficiency 36 34 0.036
350
LTR009 Lateral Meningocele Syndrome 33 0.036
351
48X003 48,xxyy Syndrome 33 0.036
352
FGS001 Fg Syndrome 32 0.036
353
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.036
354
CRN185 Craniofacial Deafness Hand Syndrome 31 0.036
355
c TTR017 Tetrasomy 12p 31 0.036
356
INN003 Iniencephaly 29 0.036
357
EPD046 Epididymitis 29 0.036
358
CLK001 C-Like Syndrome 29 0.036
359
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 29 0.036
360
17Q004 17q12 Microdeletion Syndrome 29 0.036
361
TFT003 Tufting Enteropathy 28 0.036
362
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 28 0.036
363
IRN002 Iron Metabolism Disease 28 0.036
364
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.036
365
c PRS067 Persistent Mullerian Duct Syndrome, Type I 26 0.036
366
P DST041 Distal Monosomy 3p 26 0.036
367
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 25 0.036
368
c CHR266 Chromosome 8p23.1 Deletion 25 0.036
369
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 24 0.036
370
BDS002 Bod Syndrome 24 0.036
371
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.036
372
DYS052 Dyssegmental Dysplasia Silverman-Handmaker Type 24 0.036
373
INT011 Interstitial Emphysema 23 0.036
374
TLH001 Tel Hashomer Camptodactyly Syndrome 23 0.036
375
c BNG076 Benign Exophthalmos Syndrome 22 0.036
376
SCR025 Scarf Syndrome 22 0.036
377
LMB013 Limb Reduction Defect 22 0.036
378
LWR007 Lowry Maclean Syndrome 22 0.036
379
c TTR012 Tetrasomy 9p 22 0.036
380
P CHR229 Chromosome 20p Duplication 21 0.036
381
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 21 0.036
382
c KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 21 0.036
383
PRX069 Proximal 16p11.2 Microdeletion Syndrome 20 0.036
384
HTR007 Heterotopia, Periventricular, Ed Variant 19 0.036
385
MCN018 Mucinous Adenocarcinoma of the Appendix 19 0.036
386
DFF002 Diffuse Pulmonary Fibrosis 19 0.036
387
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 18 0.036
388
AZY001 Azygos Continuation of the Inferior Vena Cava 18 0.036
389
c ANT010 Anterior Compartment Syndrome 17 0.036
390
48X002 48,xxxy Syndrome 16 0.036
391
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 16 0.036
392
CRN224 Craniofaciofrontodigital Syndrome 16 0.036
393
CNG062 Congenital Bronchobiliary Fistula 16 0.036
394
CPR003 Cooper-Jabs Syndrome 15 0.036
395
CNG235 Congenital Microgastria 15 0.036
396
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15 0.036
397
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 14 0.036
398
TRC038 Tracheobronchomegaly 13 0.036
399
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.036
400
THY053 Thyroid Hormone Plasma Membrane Transport Defect 12 0.036
401
P ALZ001 Alzheimer's Disease 100 0.026
402
P NRF002 Neurofibromatosis 94 0.026
403
P MYC007 Myocardial Infarction 93 0.026
404
FBR012 Fabry Disease 86 0.026
405
ESP021 Esophageal Cancer 80 0.026
406
P FRG001 Fragile X Syndrome 76 0.026
407
CRH001 Crohn's Disease 76 0.026
408
GLN003 Glanzmann's Thrombasthenia 74 0.026
409
HYP458 Hyper Ige Syndrome 72 0.026
410
ACQ007 Acquired Immunodeficiency Syndrome 71 0.026
411
GLL008 Gilles De La Tourette Syndrome 71 0.026
412
P HMN010 Hemangioma 71 0.026
413
P NRB001 Neuroblastoma 70 0.026
414
c CRN037 Craniosynostosis 70 0.026
415
P FCL005 Focal Segmental Glomerulosclerosis 70 0.026
416
c HPT016 Hepatitis B 70 0.026
417
ART021 Arteriosclerosis 68 0.026
418
BRN024 Bronchitis 67 0.026
419
c AMY001 Amyotrophic Lateral Sclerosis 67 0.026
420
IDP003 Idiopathic Pulmonary Fibrosis 67 0.026
421
P CNV004 Canavan Disease 67 0.026
422
MCK007 Muckle-Wells Syndrome 67 0.026
423
STT001 Status Epilepticus 66 0.026
424
P SYS005 Systemic Scleroderma 66 0.026
425
P MCL015 Mucolipidosis Ii 66 0.026
426
PLM033 Pulmonary Embolism 66 0.026
427
P WLM002 Wilms Tumor 66 0.026
428
c XRD001 Xeroderma Pigmentosum 66 0.026
429
ABT001 Abetalipoproteinemia 65 0.026
430
CST001 Costello Syndrome 65 0.026
431
HMH002 Hemihypertrophy 64 0.026
432
c GLL020 Gallbladder Disease 64 0.026
433
MXD005 Mixed Connective Tissue Disease 64 0.026
434
BBS001 Babesiosis 64 0.026
435
P ADL010 Adult Respiratory Distress Syndrome 64 0.026
436
CMP002 Campylobacteriosis 63 0.026
437
PNT028 Pantothenate Kinase-Associated Neurodegeneration 63 0.026
438
LRN003 Learning Disability 63 0.026
439
SPN027 Spinal Stenosis 63 0.026
440
c HYP055 Hypoplastic Left Heart Syndrome 63 0.026
441
ART031 Aortic Coarctation 62 0.026
442
LDD001 Ladd Syndrome 62 0.026
443
TYP007 Typhoid Fever 62 0.026
444
PTN001 Patent Foramen Ovale 62 0.026
445
GLD001 Goldenhar Syndrome 62 0.026
446
P XRD018 Xeroderma Pigmentosum, Group a 61 0.026
447
P FRS003 Fraser Syndrome 61 0.026
448
PLY023 Polycystic Liver Disease 61 0.026
449
XLN001 X-Linked Ichthyosis 61 0.026
450
P MYT006 Myotonic Dystrophy Type 1 60 0.026
451
PRS047 Prostatitis 60 0.026
452
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.026
453
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.026
454
JCB001 Jacobsen Syndrome 60 0.026
455
P MLS001 Melas Syndrome 60 0.026
456
P MTR005 Mitral Valve Prolapse 59 0.026
457
CHL068 Cholestasis 59 0.026
458
RHB003 Rhabdomyosarcoma 59 0.026
459
NRN001 Neuroendocrine Carcinoma 59 0.026
460
NRC020 Neuroectodermal Tumor 59 0.026
461
ANT009 Antithrombin Iii Deficiency 59 0.026
462
MYX005 Myxoid Liposarcoma 59 0.026
463
HYP063 Hypersplenism 59 0.026
464
PLY041 Polymyositis 59 0.026
465
OST017 Osteomyelitis 59 0.026
466
CNN005 Connective Tissue Disease 58 0.026
467
MCK005 Mckusick-Kaufman Syndrome 58 0.026
468
P CRV039 Cervicitis 58 0.026
469
EPD016 Epidermolysis Bullosa 58 0.026
470
P DBT005 Diabetes Insipidus 58 0.026
471
NRL005 Neurilemmoma 58 0.026
472
BRN029 Brain Disease 58 0.026
473
c SCK002 Sick Sinus Syndrome 58 0.026
474
PRT039 Proteinuria 58 0.026
475
MYC012 Mycetoma 58 0.026
476
NRF007 Neurofibroma 58 0.026
477
P DND001 Dandy-Walker Syndrome 58 0.026
478
RLY001 Riley-Day Syndrome 58 0.026
479
HMS001 Hemosiderosis 57 0.026
480
SNS001 Sensorineural Hearing Loss 57 0.026
481
LRY018 Laryngeal Squamous Cell Carcinoma 57 0.026
482
c THR003 Thoracic Aortic Aneurysm 57 0.026
483
ANK001 Ankylosis 57 0.026
484
c LSS002 Lissencephaly 57 0.026
485
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 57 0.026
486
BRN056 Bronchopulmonary Dysplasia 57 0.026
487
DFF003 Diffuse Scleroderma 57 0.026
488
P PLY006 Polydactyly 57 0.026
489
P HYP097 Hyperekplexia 57 0.026
490
CYS002 Cystic Lymphangioma 56 0.026
491
LMT001 Limited Scleroderma 56 0.026
492
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.026
493
OST044 Osteoglophonic Dysplasia 56 0.026
494
P SYR001 Syringomyelia 56 0.026
495
PYD001 Pyoderma Gangrenosum 56 0.026
496
P OCL013 Oculodentodigital Dysplasia 56 0.026
497
KLN001 Klinefelter's Syndrome 56 0.026
498
c MCK006 Meckel Syndrome 55 0.026
499
P DWR001 Dwarfism 55 0.026
500
INC001 Incontinentia Pigmenti Achromians 55 0.026
501
PRM003 Premature Ejaculation 55 0.026
502
P FNC025 Fanconi Anemia, Complementation Group J 55 0.026
503
SLT008 Solitary Fibrous Tumor 55 0.026
504
P STC005 Stickler Syndrome Type 1 55 0.026
505
HPT023 Hepatocellular Carcinoma 54 0.026
506
CTY001 Cat Eye Syndrome 54 0.026
507
P RBN002 Robinow Syndrome 54 0.026
508
LYM022 Lymphangioma 54 0.026
509
PPT005 Peptic Ulcer Disease 54 0.026
510
P ENC008 Encephalocele 54 0.026
511
CCH002 Coach Syndrome 53 0.026
512
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.026
513
NRG002 Neurogenic Bladder 53 0.026
514
PRC013 Pericarditis 53 0.026
515
HMP005 Hemiplegia 53 0.026
516
CLR003 Clear Cell Adenocarcinoma 53 0.026
517
YLL001 Yellow Nail Syndrome 53 0.026
518
MBS002 Moebius Syndrome 53 0.026
519
CLN015 Colon Adenocarcinoma 52 0.026
520
ULN003 Ulnar-Mammary Syndrome 52 0.026
521
MYC005 Myocardial Stunning 52 0.026
522
SHR001 Short Bowel Syndrome 52 0.026
523
P PND001 Pain Disorder 52 0.026
524
ADN014 Adenomatoid Tumor 52 0.026
525
MCN008 Mucinous Cystadenocarcinoma 51 0.026
526
P CST002 Castleman's Disease 51 0.026
527
P SZR006 Seizure Disorder 51 0.026
528
ACR012 Aicardi Syndrome 51 0.026
529
MLK003 Melkersson-Rosenthal Syndrome 51 0.026
530
c EPS003 Episodic Ataxia 51 0.026
531
CYS009 Cystadenoma 51 0.026
532
CNT091 Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 51 0.026
533
GST027 Gastric Lymphoma 51 0.026
534
c STS001 Sotos Syndrome 50 0.026
535
c SCK004 Seckel Syndrome 50 0.026
536
GRM009 Germ Cell Tumors 50 0.026
537
P NRV007 Nervous System Disease 50 0.026
538
HYP005 Hypokalemia 50 0.026
539
DBW001 Dubowitz Syndrome 50 0.026
540
P DST010 Distal Arthrogryposis Type 5 50 0.026
541
P PLM030 Pleomorphic Rhabdomyosarcoma 49 0.026
542
NRT004 Neuritis 49 0.026
543
c INT060 Intestinal Atresia 49 0.026
544
c CNT035 Central Nervous System Disease 49 0.026
545
1P3001 1p36 Deletion Syndrome 49 0.026
546
MCP016 Mecp2 Duplication Syndrome 49 0.026
547
PRN038 Prune Belly Syndrome 49 0.026
548
P CNT056 Cantu Syndrome 49 0.026
549
GNT031 Genitopatellar Syndrome 49 0.026
550
KRT002 Keratomalacia 48 0.026
551
CNS002 Constrictive Pericarditis 48 0.026
552
JBS001 Job's Syndrome 48 0.026
553
URT010 Ureteral Obstruction 47 0.026
554
ANG054 Angina Pectoris 47 0.026
555
FBR054 Fibroma 47 0.026
556
INT046 Intestinal Tuberculosis 47 0.026
557
CRN025 Corneal Dystrophy 46 0.026
558
EPL002 Epilepsy Syndrome 46 0.026
559
c LRG014 Large Cell Neuroendocrine Carcinoma 46 0.026
560
RVL002 Ruvalcaba Syndrome 46 0.026
561
46X026 46xy Sex Reversal 2, Dosage-Sensitive 45 0.026
562
MLG098 Malignant Mixed Mullerian Tumor 45 0.026
563
c TRC005 Tracheal Stenosis 45 0.026
564
P EPS020 Episodic Ataxia Type 1 45 0.026
565
RYN003 Reynolds Syndrome 45 0.026
566
LYM011 Lymphogranuloma Venereum 45 0.026
567
UNL007 Unilateral Renal Agenesis 45 0.026
568
FTL007 Fetal Hydantoin Syndrome 45 0.026
569
MXD032 Mixed Germ Cell Tumor 44 0.026
570
CHN015 Chondrodysplasia 44 0.026
571
46X023 46xy Sex Reversal 7 44 0.026
572
NRN002 Neuronitis 44 0.026
573
DXT001 Dextrocardia 43 0.026
574
P GM1001 Gm1 Gangliosidosis Type 1 43 0.026
575
P CYS017 Cystic Teratoma 43 0.026
576
SCH024 Schinzel Giedion Syndrome 43 0.026
577
NPH017 Nephrosis 42 0.026
578
PCH002 Pachygyria 42 0.026
579
PRV003 Perivascular Epithelioid Cell Tumor 42 0.026
580
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 42 0.026
581
MGC004 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 42 0.026
582
RCT011 Rectal Prolapse 42 0.026
583
c MCL046 Mucolipidosis Iii Alpha/beta 42 0.026
584
GPS001 Gapo Syndrome 42 0.026
585
NGR001 Nager Acrofacial Dysostosis 41 0.026
586
HYP265 Hypotonia 41 0.026
587
ACL001 Acalculous Cholecystitis 41 0.026
588
MTR010 Mature Teratoma 41 0.026
589
c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 40 0.026
590
PHL006 Phelan-Mcdermid Syndrome 40 0.026
591
CRN088 Craniorachischisis 40 0.026
592
PHM001 Phimosis 40 0.026
593
LRY029 Laryngomalacia 40 0.026
594
CHR174 Christianson Syndrome 39 0.026
595
P ORF011 Orofaciodigital Syndrome 6 39 0.026
596
c RNG010 Ring Chromosome 15 39 0.026
597
MYH012 Myhre Syndrome 39 0.026
598
SCL017 Sclerosing Hemangioma 39 0.026
599
P ANP022 Anophthalmia/microphthalmia 39 0.026
600
NCL003 Nicolaides Baraitser Syndrome 38 0.026
601
ESN020 Eosinophilic Granulomatosis with Polyangiitis 38 0.026
602
RNL025 Renal Hypoplasia 38 0.026
603
TTH001 Tooth Ankylosis 38 0.026
604
PRT048 Partial Atrioventricular Canal 38 0.026
605
BLP004 Blepharophimosis 38 0.026
606
DXT002 Dextrocardia with Situs Inversus 38 0.026
607
GST053 Gastric Cancer 38 0.026
608
SPS057 Spasticity 38 0.026
609
P SCH023 Schindler Disease, Type 1 37 0.026
610
IPX001 Ipex Syndrome 37 0.026
611
RTR007 Retroperitoneal Leiomyosarcoma 37 0.026
612
DST056 Distal 22q11.2 Microdeletion Syndrome 37 0.026
613
BLR002 Bile Reflux 37 0.026
614
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 36 0.026
615
c OPT048 Opitz-Gbbb Syndrome 36 0.026
616
HYP143 Hypomyelination and Congenital Cataract 36 0.026
617
CLF027 Cleft Palate, Isolated 36 0.026
618
SKL017 Skeletal Dysplasias 36 0.026
619
WRN004 Wrinkly Skin Syndrome 36 0.026
620
P KBK002 Kabuki Syndrome 1 36 0.026
621
GRD006 Geroderma Osteodysplastica 36 0.026
622
c MCP012 Mucopolysaccharidosis Ih 35 0.026
623
HYP264 Hypertonia 35 0.026
624
c FML087 Familial Renal Cell Carcinoma 34 0.026
625
ABL001 Ablepharon Macrostomia Syndrome 34 0.026
626
SPR007 Superior Mesenteric Artery Syndrome 34 0.026
627
TYL002 Tylosis with Esophageal Cancer 34 0.026
628
FCT013 Factor V Leiden Thrombophilia 34 0.026
629
P PRS068 Persistent Mullerian Duct Syndrome, Type Ii 34 0.026
630
HRD028 Hereditary Folate Malabsorption 33 0.026
631
PLM018 Pulmonary Sclerosing Hemangioma 33 0.026
632
NTR005 Nutritional Deficiency Disease 33 0.026
633
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 33 0.026
634
P OPT051 Opitz Gbbb Syndrome, Type I 33 0.026
635
RGH009 Right Atrial Isomerism 33 0.026
636
NML020 Nemaline Myopathy 5, Amish Type 33 0.026
637
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 33 0.026
638
SKT001 Sakati Syndrome 32 0.026
639
OCL034 Oculocerebrocutaneous Syndrome 32 0.026
640
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 32 0.026
641
CNG122 Congenital Pulmonary Lymphangiectasia 32 0.026
642
FMR006 Femoral Facial Syndrome 32 0.026
643
EPD018 Epididymo-Orchitis 32 0.026
644
SKL007 Skeletal Muscle Regeneration 32 0.026
645
MYS010 Myostatin-Related Muscle Hypertrophy 32 0.026
646
P INF069 Infantile Neuroaxonal Dystrophy 1 31 0.026
647
c MNN025 Mannosidosis, Alpha-, Types I and Ii 31 0.026
648
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 31 0.026
649
P 49X002 49,xxxxy Syndrome 30 0.026
650
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.026
651
PRD015 Proud Levine Carpenter Syndrome 30 0.026
652
MNR004 Mounier-Kuhn Syndrome 30 0.026
653
P OMD001 Omodysplasia 1 30 0.026
654
CYT004 Cytomegalic Inclusion Disease 30 0.026
655
LNZ002 Lenz Majewski Hyperostotic Dwarfism 30 0.026
656
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 30 0.026
657
c MCP036 Mucopolysaccharidosis Ih/s 30 0.026
658
c PST061 Posterior Polymorphous Corneal Dystrophy 30 0.026
659
OCL033 Oculocerebral Syndrome with Hypopigmentation 29 0.026
660
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.026
661
CRK001 Cork-Handlers' Disease 29 0.026
662
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 28 0.026
663
CLN022 Colonic Atresia 28 0.026
664
DYS011 Dyskinesia of Esophagus 28 0.026
665
P CNG151 Congenital Hypothyroidism, Nongoitrous 1 27 0.026
666
MSM004 Mesomelia-Synostoses Syndrome 27 0.026
667
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 27 0.026
668
3Q2001 3q29 Deletion Syndrome 27 0.026
669
17Q002 17q23.1q23.2 Microdeletion Syndrome 26 0.026
670
PLM049 Plummer Vinson Syndrome 26 0.026
671
HYP179 Hypertrichosis Congenital Generalized X-Linked 26 0.026
672
TRC035 Tracheal Agenesis 26 0.026
673
LNG054 Lung Agenesis 26 0.026
674
ALP070 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis 26 0.026
675
IDP021 Idiopathic Myopathy 25 0.026
676
MCR039 Macrophagic Myofasciitis 25 0.026
677
OVR047 Ovarian Cystadenocarcinoma 25 0.026
678
ASC004 Ascending Colon Cancer 25 0.026
679
URT016 Urethral Diverticulum 25 0.026
680
CHR281 Chronic Hiccups 25 0.026
681
PL2001 Pla2g6-Associated Neurodegeneration 25 0.026
682
GRL002 Gorlin Chaudhry Moss Syndrome 25 0.026
683
ACR029 Acrofacial Dysostosis Catania Type 25 0.026
684
ARG004 Argyria 24 0.026
685
CYS015 Cystadenofibroma 24 0.026
686
MCR073 Microgastria Limb Reduction Defect 24 0.026
687
SCH055 Schilbach-Rott Syndrome 23 0.026
688
3MC002 3mc Syndrome 1 23 0.026
689
PLY031 Polydactyly Myopia Syndrome 23 0.026
690
17P002 17p13.3 Microduplication Syndrome 23 0.026
691
PLL005 Pallister-Killian Mosaic Syndrome 23 0.026
692
TRN003 Transverse Colon Cancer 23 0.026
693
2P1002 2p15p16.1 Microdeletion Syndrome 23 0.026
694
TCK002 Tick Paralysis 23 0.026
695
c HRD009 Hereditary Wilms' Tumor 23 0.026
696
ART007 Aorta Atresia 23 0.026
697
SPL022 Split Hand Urinary Anomalies Spina Bifida 22 0.026
698
3MC001 3mc Syndrome 2 22 0.026
699
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 22 0.026
700
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.026
701
BRC019 Brachycephalofrontonasal Dysplasia 22 0.026
702
CRN083 Craniofacial Dyssynostosis 22 0.026
703
c CHR224 Chromosome 1q Duplication 22 0.026
704
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 22 0.026
705
DFN279 Deafness - Intellectual Disability, Martin-Probst Type 21 0.026
706
JNT001 Joint Laxity, Familial 21 0.026
707
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 21 0.026
708
ACR069 Acro-Renal-Mandibular Syndrome 21 0.026
709
MRG001 Morgagni Cataract 21 0.026
710
P 7Q1002 7q11.23 Duplication Syndrome 21 0.026
711
P PLM069 Pulmonary Venous Return Anomaly 21 0.026
712
17P001 17p11.2 Microduplication Syndrome 21 0.026
713
MSN003 Mesenteric Vascular Occlusion 21 0.026
714
CRN190 Craniosynostosis - Fibular Aplasia 21 0.026
715
ANR019 Anorectal Atresia 21 0.026
716
VSC026 Vesiculitis 21 0.026
717
GNT017 Genito Palato Cardiac Syndrome 21 0.026
718
PRG098 Progéria - Short Stature - Pigmented Nevi 20 0.026
719
GNT020 Giant Congenital Nevus 20 0.026
720
c 46X001 46 Xy Gonadal Dysgenesis 20 0.026
721
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 20 0.026
722
WLS004 Wilson-Turner Syndrome 20 0.026
723
ARM005 Armfield Syndrome 20 0.026
724
ISL075 Isolated Pierre Robin Sequence 20 0.026
725
ACH018 Achondroplasia and Severe Combined Immunodeficiency 20 0.026
726
c CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.026
727
HLP015 Holoprosencephaly - Postaxial Polydactyly 20 0.026
728
P MNT109 Mental Retardation, X-Linked, Syndromic 15 20 0.026
729
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 20 0.026
730
SCH025 Schisis Association 19 0.026
731
SHP004 Shprintzen Omphalocele Syndrome 19 0.026
732
INT240 Intellectual Disability, Wolff Type 19 0.026
733
MNV001 Manouvrier Syndrome 19 0.026
734
BLP009 Blepharonasofacial Malformation Syndrome 19 0.026
735
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 19 0.026
736
BRD023 Bird Headed Dwarfism Montreal Type 18 0.026
737
STR029 Sternal Cleft 18 0.026
738
BND007 Bone Dysplasia Lethal Holmgren Type 18 0.026
739
SYM004 Say Meyer Syndrome 18 0.026
740
c MNS011 Monosomy 9q22.3 18 0.026
741
16P006 16p11.2p12.2 Microdeletion Syndrome 18 0.026
742
ESN014 Eosinophilic Enteropathy 18 0.026
743
FLT008 Flat Face - Microstomia - Ear Anomaly 18 0.026
744
BRC027 Brachydactyly Mononen Type 18 0.026
745
PRV001 Parovarian Cyst 17 0.026
746
PRG024 Progeroid Syndrome Petty Type 17 0.026
747
P ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 17 0.026
748
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 17 0.026
749
c DST045 Distal Trisomy 6p 17 0.026
750
RMS006 Ramos-Arroyo Syndrome 17 0.026
751
ANR012 Aniridia Absent Patella 17 0.026
752
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 17 0.026
753
MLP004 Malpuech Facial Clefting Syndrome 17 0.026
754
c 6P2001 6p22 Microdeletion Syndrome 17 0.026
755
ESP040 Esophageal Duplication Cyst 16 0.026
756
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 16 0.026
757
CNG092 Congenital Extrahepatic Portosystemic Shunt 16 0.026
758
14Q001 14q12 Microdeletion Syndrome 16 0.026
759
PFF004 Pfeiffer Palm Teller Syndrome 16 0.026
760
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 16 0.026
761
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 16 0.026
762
CLL022 Collins Pope Syndrome 16 0.026
763
SBR006 Subaortic Stenosis Short Stature Syndrome 16 0.026
764
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 16 0.026
765
GRX001 Grix Blankenship Peterson Syndrome 16 0.026
766
RNL040 Renal Genital Middle Ear Anomalies 16 0.026
767
HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 16 0.026
768
c SVR048 Severe Canavan Disease 16 0.026
769
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 15 0.026
770
SVR009 Seaver Cassidy Syndrome 15 0.026
771
RCT033 Rectal Duplication 15 0.026
772
DSH001 Daish Hardman Lamont Syndrome 15 0.026
773
BNG042 Benign Multicystic Peritoneal Mesothelioma 15 0.026
774
c DST038 Distal Monosomy 7q36 15 0.026
775
FRS008 Froster-Huch Syndrome 15 0.026
776
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 15 0.026
777
MLL017 MĂĽllerian Derivatives - Lymphangiectasia - Polydactyly 15 0.026
778
SYR004 Syringobulbia 15 0.026
779
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 15 0.026
780
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 15 0.026
781
c DST037 Distal Monosomy 9p 14 0.026
782
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 0.026
783
15Q003 15q14 Microdeletion Syndrome 14 0.026
784
ARC018 Arachnodactyly - Abnormal Ossification - Intellectual Disability 14 0.026
785
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 14 0.026
786
THK001 Thakker-Donnai Syndrome 14 0.026
787
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 14 0.026
788
CND009 Conductive Deafness with Malformed External Ear 14 0.026
789
INT241 Intellectual Disability, Buenos-Aires Type 14 0.026
790
ADN026 Adenocarcinoid Tumor 14 0.026
791
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.026
792
MYC060 Mycophenolate Mofetil Embryopathy 14 0.026
793
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14 0.026
794
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14 0.026
795
ACR070 Acro-Pectoro-Renal Dysplasia 13 0.026
796
DST071 Distal Monosomy 19p13.3 13 0.026
797
MCK004 Meckel's Diverticulitis 13 0.026
798
c CHR203 Chromosome 16p Duplication 13 0.026
799
NND005 Non-Distal Trisomy 13q 13 0.026
800
FBL005 Fibular Aplasia 13 0.026
801
16P003 16p13.11 Microdeletion Syndrome 13 0.026
802
c 8Q1001 8q12 Microduplication Syndrome 12 0.026
803
INT236 Intellectual Disability - Unusual Facies 12 0.026
804
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 12 0.026
805
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 12 0.026
806
c CRP022 Carpenter Syndrome 2 12 0.026
807
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 12 0.026
808
BRC077 Brachydactyly - Mesomelia - Intellectual Disability - Heart Defects 11 0.026
809
INT234 Intellectual Disability - Hypotonia - Skin Hyperpigmentation 11 0.026
810
XLN145 X-Linked Intellectual Disability, Pai Type 11 0.026
811
FTL024 Fetal Minoxidil Syndrome 11 0.026
812
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 11 0.026
813
CTS024 Cutis Laxa-Marfanoid Syndrome 11 0.026
814
PLM045 Palmer Pagon Syndrome 11 0.026
815
MLL008 Mullerian Agenesis 10 0.026
816
KRS001 Krauss Herman Holmes Syndrome 10 0.026
817
LPM001 Lipoma of Spermatic Cord 9 0.026
818
PRC041 Pericardial and Diaphragmatic Defect 7 0.026
819
CNG131 Congenital Unilateral Pulmonary Hypoplasia 7 0.026